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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:multiple epiphyseal dysplasia 4
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Accession:DOID:0070300 term browser browse the term
Definition:A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. (DO)
Synonyms:exact_synonym: EDM4;   MED4;   Multiple epiphyseal dysplasia with bilayered patellae;   Multiple epiphyseal dysplasia with clubfoot;   Multiple epiphyseal dysplasia with double-layered patella;   autosomal recessive multiple epiphyseal dysplasia;   multiple epiphyseal dysplasia with bilateral patellae;   polyepiphyseal dysplasia type 4;   rMED
 primary_id: MESH:C535504;   OMIM:226900
 xref: GARD:9793;   ORDO:93307
For additional species annotation, visit the Alliance of Genome Resources.


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multiple epiphyseal dysplasia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by OMIM:226900
DN A:mutations:intron,exon:-26+2T>C,837C>T(p.R279W)(human)
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 4
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae
OMIM
ClinVar
PMID:7923357 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:11727031 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:17393463 PMID:18553123 PMID:18708426 PMID:18925670 PMID:20219950 PMID:20301524 PMID:20525296 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:26077908 PMID:27065010 PMID:28492532 PMID:29024831 PMID:31880411, PMID:24598000 RGD:13208864 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      bone development disease 1307
        osteochondrodysplasia 441
          multiple epiphyseal dysplasia 10
            multiple epiphyseal dysplasia 4 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              osteochondrodysplasia 441
                multiple epiphyseal dysplasia 10
                  multiple epiphyseal dysplasia 4 1
paths to the root